Germline mutations in the BRCA1 gene predisposing to breast and ovarian cancers in Upper Silesia population

• Autorzy: Grzybowska E. , Sieminska M. , Zientek H. , Kalinowska E. , Michalska J. , Utracka-Hutka B. , Rogozinska-Szczepka J. , Kazmierczak-Maciejewska M.
• Języki publikacji: EN

Abstrakty

EN

Germline mutations in the BRCA1 or BRCA2 genes predispose their carriers to breast or/and ovary cancers during their lifetime. The most frequent mutations: 5382insC, 185delAG, C61G and 4153delA in BRCA1, and 6174delT and 9631delC in BRCA2 were studied in a group of 148 probands admitted for genetic counseling, us­ing allele-specific amplification (ASA) PCR test. Fifteen carriers of three different mutations: 5382insC, 185delAG and C61G in BRCA1 were found. Two families carried the 185delAG mutation and additional two C61G in BRCA1. Nobody carried the mutation 4153delA in BRCA1 nor 6174delT or 9631delC in BRCA2. Most of the carriers of a germline mutation were observed among the patients who developed bilateral breast cancer (17%). The lowest fre­quency of the germline mutations was found in the healthy persons who had two or more relatives affected with breast or ovarian cancer.

Słowa kluczowe

EN

cancer syndrome; hereditary predisposition; breast; population; Upper Silesian region; germline mutation; polymorphism; BRCA1 gene; man; BRCA2 gene; ovarian cancer; polymerase chain reaction; cancer

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2002
• Tom: 49
• Numer: 2
• Opis fizyczny: p.351-356

Twórcy

autor

Grzybowska E.

• Centre of Oncology-Maria Sklodowska-Curie Memorial Institute, Wybrzeze Armii Krajowej 15, 44-101 Gliwice, Poland

autor

Sieminska M.

autor

Zientek H.

autor

Kalinowska E.

autor

Michalska J.

autor

Utracka-Hutka B.

autor

Rogozinska-Szczepka J.

autor

Kazmierczak-Maciejewska M.

Bibliografia

• Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T. (1997) The founder mutations 185delAG and 5382insC in BRCA1 and 6174detT in BRCA2 appear in 60% of ovarian cancer and 30% of early- onset breast cancer patients among Ashkenazi women. Am J Hum Genet.; 60: 505-14.
• Chan PCR, Wong BYL, Ozcelik H, Cole EC. (1999) Simple and rapid detection of BRCA1 and BRCA2 mutations by multiplex mutagenically separated PCR. Clin Chem.; 45: 1285-7.
• Couch FJ, Deshano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, et al. (1997) BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med.; 336: 1409-15.
• Easton D, Ford D, Peto J. (1993) Inherited susceptibility to breast cancer. Cancer Surv.; 18: 95-113.
• Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al. (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet.; 62: 676-89.
• Gorski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzanska A, Bebenek M, Fiszer-Maliszewska L, Grzybowska E, Narod SA, Lubinski J. (2000) Founder mutations in the BRCA1 gene in Polish families with breast- ovarian cancer. Am J Hum Genet.; 66: 1963-8.
• Grzybowska E, Hemminki K, Szeliga J, Chorazy M. (1993) Seasonal variation of aromatic DNA adducts in human mononuclear white blood cells and granulocytes. Carcinogenesis.; 14: 2523-6.
• Grzybowska E, Zientek H, Jasinska A, Rusin M, Kozlowski P, Sobczak K, Sikorska A, Kwiatkowska E, Gorniak L, Kalinowska E, Utracka-Hutka B, Wloch J, Chmielik E, Krzyzosiak W. (2000) High frequency of recurrent mutations in BRCA1 and BRCA2genes in Polish families with breast and ovarian cancer. Human Mutat.; 16: 482-90.
• Hemminki K, Vaittinen P, Easton D. (2000) Familial cancer risks to offspring from mothers with two primary breast cancers: leads to cancer syndromes. Int J Cancer.; 88: 87-91.
• Martin A-M, Weber BL. (2000) Genetic and hormonal risk factors in breast cancer. J Natl Cancer Inst.; 92: 1126-35.
• Miki Y, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science.; 266: 66-71.
• Narod SA, Ford D, Devilee P, Barkadottir RB, Lynch HT, Smith SA, et al. (1995) An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. Am J Hum Genet.; 56: 254-64.
• Oddoux C, Struewing JP, Clayton CM, Neuhausen S, Brody LC, Kaback M, Haas B, Norton L, Borgen P, Jhanwar S, Goldgar D, Ostrer H, Offit K. (1996) The carrier frequency of the BRCA26174delT individuals is approximately 1%. Nat Genet.; 14: 188-90.
• Roa BB, Boyd AA, Volcik K, Richards CS. (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet.; 14: 185-7.
• Sobczak K, Kozłowski P, Napierała M, Czarny J, Wozniak M, Kapuscinska M, Losko M, Koziczak M, Jasinska A, Powierska J, Braczkowski J, Breborowicz J, Godlewski D, Mackiewicz A, Krzyzosiak WJ. (1997) Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western Poland. Oncogene.; 15: 1773-9.
• Struewing JP, Hartge P, Warcholder S, Baker SM, Berlin M, McAdams M, Brody LC, Tucker MA. (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med.; 336: 1401-8.
• Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc J-F, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swenlund B, Swensen J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AKC, Shizuya H, Eyfjord JE, Cannon-Albright L, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE. (1996) The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet.; 12: 333-7.
• Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjord JE. (1996) A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet.; 13: 117-9.
• Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G, Barfoot R, Hamoudi R, Patel S, Rice C, Biggs P, Hashim Y, Smith A, Connor F, Arason A, Gudmundsson J, Ficenec D, Kelsell D, Ford D, Tonin P, Bishop DT, Spurr NK, Ponder BAJ, Eeles R, Peto J, Devilee P, Cornelisse C, Lynch H, Narod S, Lenoir G, Egilsson V, Barkadottir RB, Easton DF, Bentley DR, Futreal PA, Ashworth A, Stratton MR. (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature.; 378: 789-92.
• Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, Fields P, Marshall G, Narod S, Lenoir GM, Lynch H, Feunteun J, Devilee P, Cornelisse CJ, Menko FH, Daly PA, Ormiston W, McManus R, Pye C, Lewis CM, Cannon-Albright LA, Peto J, Ponder BAJ, Skolnick MH, Easton DF, Goldgar DE, Stratton MR. (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science.; 265: 2088-90.
• Zheng L, Li S, Boyer TG, Lee W-H. (2000) Lessons learned from BRCA1 and BRCA2. Oncogene.; 19: 6159-75.